The psychological functioning of children with Epidermolysis Bullosa (EB) and its relationship with specific aspects of disease

Epidermolysis Bullosa (EB) is a group of genetic conditions resulting in skin and mucosal membrane fragility. EB is characterised by chronic wounds and scarring, consequent functional limitations and high levels of pain. In its most severe forms, life expectancy is significantly foreshortened

New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk

Background Facial port-wine stains (PWSs) are usually isolated findings; however, when associated with cerebral and ocular vascular malformations they form part of the classical triad of Sturge–Weber syndrome (SWS). Objectives To evaluate the associations between the phenotype of facial PWS and the diagnosis of SWS in a cohort with a high rate of SWS. Methods Records were reviewed of all 192 children with a facial PWS seen in 2011–13. Adverse outcome measures were clinical (seizures, abnormal neurodevelopment, glaucoma) and radiological [abnormal magnetic resonance imaging (MRI)], modelled by multivariate logistic regression. Results The best predictor of adverse outcomes was a PWS involving any part of the forehead, delineated at its inferior border by a line joining the outer canthus of the eye to the top of the ear, and including the upper eyelid. This involves all three divisions of the trigeminal nerve, but corresponds well to the embryonic vascular development of the face. Bilateral distribution was not an independently significant phenotypic feature. Abnormal MRI was a better predictor of all clinical adverse outcome measures than PWS distribution; however, for practical reasons guidelines based on clinical phenotype are proposed. Conclusions Facial PWS distribution appears to follow the embryonic vasculature of the face, rather than the trigeminal nerve. We propose that children with a PWS on any part of the ‘forehead’ should have an urgent ophthalmology review and a brain MRI. A prospective study has been established to test the validity of these guidelines

The adverse effect profile of oral azathioprine in pediatric atopic dermatitis, and recommendations for monitoring

Background Azathioprine is efficacious in the treatment of severe childhood atopic dermatitis; however, robust data on adverse effects in this population are lacking. Objective We sought to assess adverse effects of azathioprine treatment in a pediatric atopic dermatitis cohort, and make recommendations for monitoring based on these data

Experimental testing of self-healing ability of soft polymer materials

Bioinspired materials that act like living tissues and can repair internal damage by themselves, i.e. self-healing materials, are an active field of research. Here a methodology for experimental testing of self-healing ability of soft polymer materials is described. The methodology is applied to a recently synthesized polyurethane material Smartpol (ADHTECH Smart Polymers & Adhesives S.L., Alicante, Spain). Series of tests showed that the material demonstrated self-healing ability. The tests included the following steps: each Smartpol specimen was cut in halves, then it was put together under compression, and after specified amount of time, it was pulled apart while monitoring the force in contact. The test conditions were intentionally chosen to be non-ideal. These non-idealities simultaneously included: (1) separation time was rather long (minutes and dozens of minutes), (2) there was misalignment of specimen parts when they were put together, (3) contacting surfaces were non-flat, and (4) repeated testing of the same specimens was performed and, therefore, repeated damage was simulated. Despite the above, the recovery of structural integrity (self-healing) of the material was observed which demonstrated the remarkable features of Smartpol. Analysis of the experimental results showed clear correlation between adhesion forces (observed through the values of maximum pull-off force) and the time in contact which is a clear indicator of self-healing ability of material. It is argued that the factors contributing to self-healing of the tested material at macro-scale were high adhesion and strong viscoelasticity. The results of fitting the force relaxation data by means of mathematical model containing multiple exponential terms suggested that the material behaviour may be adequately described by the generalized Maxwell model

Oral chondroitin sulfate and prebiotics for the treatment of canine Inflammatory Bowel Disease: a randomized, controlled clinical trial

BACKGROUND Canine inflammatory bowel disease (IBD) is a chronic enteropathy of unknown etiology, although microbiome dysbiosis, genetic susceptibility, and dietary and/or environmental factors are hypothesized to be involved in its pathogenesis. Since some of the current therapies are associated with severe side effects, novel therapeutic modalities are needed. A new oral supplement for long-term management of canine IBD containing chondroitin sulfate (CS) and prebiotics (resistant starch, β-glucans and mannaoligosaccharides) was developed to target intestinal inflammation and oxidative stress, and restore normobiosis, without exhibiting any side effects. This double-blinded, randomized, placebo-controlled trial in dogs with IBD aims to evaluate the effects of 180 days administration of this supplement together with a hydrolyzed diet on clinical signs, intestinal histology, gut microbiota, and serum biomarkers of inflammation and oxidative stress. RESULTS Twenty-seven client-owned biopsy-confirmed IBD dogs were included in the study, switched to the same hydrolyzed diet and classified into one of two groups: supplement and placebo. Initially, there were no significant differences between groups (p > 0.05) for any of the studied parameters. Final data analysis (supplement: n = 9; placebo: n = 10) showed a significant decrease in canine IBD activity index (CIBDAI) score in both groups after treatment (p < 0.001). After treatment, a significant decrease (1.53-fold; p < 0.01) in histologic score was seen only in the supplement group. When groups were compared, the supplement group showed significantly higher serum cholesterol (p < 0.05) and paraoxonase-1 (PON1) levels after 60 days of treatment (p < 0.01), and the placebo group showed significantly reduced serum total antioxidant capacity (TAC) levels after 120 days (p < 0.05). No significant differences were found between groups at any time point for CIBDAI, WSAVA histologic score and fecal microbiota evaluated by PCR-restriction fragment length polymorphism (PCR-RFLP). No side effects were reported in any group. CONCLUSIONS The combined administration of the supplement with hydrolyzed diet over 180 days was safe and induced improvements in selected serum biomarkers, possibly suggesting a reduction in disease activity. This study was likely underpowered, therefore larger studies are warranted in order to demonstrate a supplemental effect to dietary treatment of this supplement on intestinal histology and CIBDAI

The Common NF-κB Essential Modulator (NEMO) Gene Rearrangement in Korean Patients with Incontinentia Pigmenti

Incontinentia pigmenti (IP) is a rare X-linked dominant disorder characterized by highly variable abnormalities of the skin, eyes and central nervous system. A mutation of the nuclear factor-κB essential modulator (NEMO) located at Xq28 is believed to play a role in pathogenesis and the mutation occurs mostly in female patients due to fatal consequence of the mutation in males in utero. This study was designed to identify the common NEMO rearrangement in four Korean patients with IP. Deletion of exons 4 to 10 in the NEMO, the most common mutation in IP patients, was detected in all of the patients by the use of long-range PCR analysis. This method enabled us to discriminate between NEMO and pseudogene rearrangements. Furthermore, all of the patients showed skewed XCI patterns, indicating pathogenicity of IP was due to cells carrying the mutant X chromosome. This is the first report of genetically confirmed cases of IP in Korea

Prenatal Vitamin D Supplementation and Child Respiratory Health: A Randomised Controlled Trial

PMCID: PMC3691177This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited

Following wrong suggestions: self-blame in human and computer scenarios

This paper investigates the specific experience of following a suggestion by an intelligent machine that has a wrong outcome and the emotions people feel. By adopting a typical task employed in studies on decision-making, we presented participants with two scenarios in which they follow a suggestion and have a wrong outcome by either an expert human being or an intelligent machine. We found a significant decrease in the perceived responsibility on the wrong choice when the machine offers the suggestion. At present, few studies have investigated the negative emotions that could arise from a bad outcome after following the suggestion given by an intelligent system, and how to cope with the potential distrust that could affect the long-term use of the system and the cooperation. This preliminary research has implications in the study of cooperation and decision making with intelligent machines. Further research may address how to offer the suggestion in order to better cope with user's self-blame.Comment: To be published in the Proceedings of IFIP Conference on Human-Computer Interaction (INTERACT)201